Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A1
Variant:p.W31S
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SLC52A1

NM_017986.4:p.W31S

Associated Papers

In silico investigation on structure-function relationship of members belonging to the human SLC52 transporter family.

Ben Mariem O et al.

Proteins, 2023

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.

Console L et al.

Iubmb Life, 2022

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR et al.

Brain : a Journal of Neurology, 2014

24253200 (PubMed )
Supplement: supp_awt315_Supplementary_Material.docx
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